Hemoglobin Seville [α2 β2 81(EF5) Leu→Phe] a silent phenotypic variant that interferes in hemoglobin A1c measurement by ion-exchange HPLC method

Clin Biochem. 2011 Jul;44(10-11):933-5. doi: 10.1016/j.clinbiochem.2011.04.007. Epub 2011 Apr 29.

Abstract

Objectives: The aim of the study was to investigate hemoglobin (Hb) species in a 61 year-old male with diabetes mellitus type II and a low value of Hb A(1c).

Design and methods: Hb species were analyzed by electrophoresis and chromatography methods. Functional properties were determined by oxygen equilibrium studies. β-globin gene was amplified by PCR and sequenced.

Results and conclusions: A novel clinically silent Hb (Hb Seville), that results in falsely low Hb A(1c) measurement, was detected. This Hb variant presented a single base mutation at codon 81 (C→T) of the β-globin gene. This case points out the necessity of careful inspection of the chromatograms and the use of additional methods to Hb A(1c) measurement when the presence of aberrant peaks is detected.

Publication types

  • Case Reports

MeSH terms

  • Chromatography, High Pressure Liquid / methods*
  • Chromatography, Ion Exchange / methods*
  • Chromatography, Reverse-Phase
  • Glycated Hemoglobin / analysis*
  • Glycated Hemoglobin / isolation & purification
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Phenotype

Substances

  • Glycated Hemoglobin A
  • Hemoglobins, Abnormal